Trial reportMolecular and cellular biochemistry2018
ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies.
Trial report in Molecular and cellular biochemistry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- A systematic review of nonsynonymous single nucleotide polymorphisms in the renin-angiotensin-aldosterone system.Cardiology journal · 2022Pooled it
- Genotype-Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations.Health science reports · 2026Article
- [Research progress on poor response, resistance mechanisms, and influencing factors of immunotherapy for hepatocellular carcinoma].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Review
- Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.Journal of the American Heart Association · 2025Article
- Validation of novel predictors for early detection of cancer therapeutics-related cardiac dysfunction.Future cardiology · 2025Article
- Glycogen metabolism-mediated intercellular communication in the tumor microenvironment influences liver cancer prognosis.Oncology research · 2024Article
- Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.The Indian journal of medical research · 2023Article
- Narrative review of metabolomics in cardiovascular disease.Journal of thoracic disease · 2021Review
- ACE2 Nascence, trafficking, and SARS-CoV-2 pathogenesis: the saga continues.Human genomics · 2021Review
- Germline Genetic Variants of Viral Entry and Innate Immunity May Influence Susceptibility to SARS-CoV-2 Infection: Toward a Polygenic Risk Score for Risk Stratification.Frontiers in immunology · 2021Review
- The Impact of ACE2 Polymorphisms on COVID-19 Disease: Susceptibility, Severity, and Therapy.Frontiers in cellular and infection microbiology · 2021Review
- Diacerein: A potential multi-target therapeutic drug for COVID-19.Medical hypotheses · 2020Article
- Prevention and Management of Type 2 Diabetes and Metabolic Syndrome in the Time of COVID-19: Should We Add a Cup of Coffee?Frontiers in nutrition · 2020Review
- Association of ACE2 genetic polymorphisms with hypertension-related target organ damages in south Xinjiang.Hypertension research : official journal of the Japanese Society of Hypertension · 2019Article
- Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy: JACC Review Topic of the Week.Journal of the American College of Cardiology · 2019Review
- Association of ACE2 polymorphisms with susceptibility to essential hypertension and dyslipidemia in Xinjiang, China.Lipids in health and disease · 2018Article
- Overlapping Phenotypes and Degree of Ventricular Dilatation Are Associated with Severity of Systolic Impairment and Late Gadolinium Enhancement in Non-Ischemic Cardiomyopathies.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The marked clinical and genetic heterogeneity seen in hypertrophic (HCM) and dilated cardiomyopathies (DCM) suggests involvement of disease modifiers and environmental factors in the pathophysiology of these diseases. In the current study, we examined association of single nucleotide polymorphisms (SNPs) of three candidate genes, ACE2 (rs6632677), TNNI3K (rs49812611) and CALM3 (rs13477425) with clinical phenotypes of HCM and DCM patients of North Indian ethnicity. Prevalence of ACE2 (7160726 C>G) variant genotypes (CG and GG) was significantly higher in DCM subjects as compared to controls. Prevalence of TNNI3K (3784 C>T) and CALM3 (-34T>A) variant homozygous genotype were significantly higher in HCM and DCM subjects as compared to controls. DCM patients with CT genotype showed significant decrease in LVEF as compared to CC genotype (p < 0.03). There was significant gene-gene interaction between these SNPs and three-way SNP combination of ACE2 C>G, TNN13K C>T, CALM3 A>T gene variants and was associated with high risk of HCM and DCM. Presence of ACE2 (7160726 C>G) and CALM3 (-34T>A) variant genotypes in HCM Patients with mutations (sarcomeric or non sarcomeric genes) was associated with increased mean septal thickness, further suggesting a role of these gene variants in modifying disease phenotype. Our results suggest that ACE2, TNNI3K and CALM3 polymorphisms are associated with increased risk of HCM and DCM and may act as disease modifiers of these diseases.
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